Incidental Mutation 'R9263:Igsf1'
ID 702400
Institutional Source Beutler Lab
Gene Symbol Igsf1
Ensembl Gene ENSMUSG00000031111
Gene Name immunoglobulin superfamily, member 1
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9263 (G1)
Quality Score 221.999
Status Validated
Chromosome X
Chromosomal Location 48871413-48886626 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 48884191 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 2 (M2T)
Ref Sequence ENSEMBL: ENSMUSP00000033442 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033442] [ENSMUST00000072037] [ENSMUST00000114891]
AlphaFold Q7TQA1
Predicted Effect possibly damaging
Transcript: ENSMUST00000033442
AA Change: M2T

PolyPhen 2 Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000033442
Gene: ENSMUSG00000031111
AA Change: M2T

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
IG_like 33 113 2.88e1 SMART
IG_like 127 212 1.02e1 SMART
IG 223 307 4.15e0 SMART
IGc2 324 389 2.21e-5 SMART
IG_like 413 472 1.7e0 SMART
transmembrane domain 501 520 N/A INTRINSIC
transmembrane domain 532 551 N/A INTRINSIC
SCOP:d1nkr_2 571 661 2e-9 SMART
IG_like 675 738 4.32e-1 SMART
IG 765 850 6.16e-4 SMART
IG 861 946 1.55e0 SMART
IG_like 957 1042 2.27e1 SMART
IG 1053 1138 4.93e-3 SMART
IG_like 1155 1214 6.67e-1 SMART
transmembrane domain 1243 1262 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000072037
AA Change: M2T

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000071919
Gene: ENSMUSG00000031111
AA Change: M2T

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
IG_like 33 113 2.88e1 SMART
IG_like 127 212 1.02e1 SMART
IG 223 307 4.15e0 SMART
IGc2 324 389 2.21e-5 SMART
IG_like 413 472 1.7e0 SMART
transmembrane domain 501 520 N/A INTRINSIC
transmembrane domain 532 551 N/A INTRINSIC
Pfam:Ig_2 572 659 4.5e-5 PFAM
IG_like 675 738 4.32e-1 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000114891
AA Change: M2T

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000110541
Gene: ENSMUSG00000031111
AA Change: M2T

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
IG_like 33 113 2.88e1 SMART
IG_like 127 212 1.02e1 SMART
Meta Mutation Damage Score 0.4313 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (45/45)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the immunoglobulin-like domain-containing superfamily. Proteins in this superfamily contain varying numbers of immunoglobulin-like domains and are thought to participate in the regulation of interactions between cells. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2010]
PHENOTYPE: Females homozygous for disruptions of this gene show no obvious phenotypic change. Hemizygous males show hypothyroidism and increased body weight. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1c14 T C 13: 4,113,620 (GRCm39) S51P probably damaging Het
Arhgef38 T G 3: 132,866,529 (GRCm39) K203Q Het
Cacna1d G A 14: 29,796,925 (GRCm39) R1517W probably damaging Het
Ccdc80 T A 16: 44,915,949 (GRCm39) M235K probably damaging Het
Cdc42bpg T C 19: 6,372,149 (GRCm39) S1414P probably damaging Het
Dab2ip A G 2: 35,602,891 (GRCm39) D395G probably damaging Het
Dmxl2 T C 9: 54,358,945 (GRCm39) E255G probably benign Het
Dnaja1 T A 4: 40,724,133 (GRCm39) M98K probably benign Het
Dnajb7 G A 15: 81,292,266 (GRCm39) R24C probably benign Het
Dscc1 C A 15: 54,947,505 (GRCm39) W225L probably damaging Het
Dsg2 T A 18: 20,727,223 (GRCm39) V590D probably benign Het
Epcam A G 17: 87,947,960 (GRCm39) probably benign Het
Fbn2 T C 18: 58,257,344 (GRCm39) Y341C probably damaging Het
Fry T G 5: 150,322,728 (GRCm39) L1040R probably damaging Het
Gm9639 C T 10: 77,630,828 (GRCm39) C28Y unknown Het
Hsd17b7 A G 1: 169,794,833 (GRCm39) S69P probably damaging Het
Katnip T A 7: 125,469,867 (GRCm39) D1445E probably damaging Het
Kmt2d TGCTGCTGCTGCTGCTGCTGG TG 15: 98,747,499 (GRCm39) probably null Het
Lrp5 T C 19: 3,654,190 (GRCm39) Y1079C probably damaging Het
Lrp6 T C 6: 134,457,467 (GRCm39) D779G probably damaging Het
Nbea AC A 3: 55,998,393 (GRCm39) probably null Het
Pacsin1 A G 17: 27,923,924 (GRCm39) D106G probably damaging Het
Pcm1 T A 8: 41,732,790 (GRCm39) D682E probably benign Het
Pex6 A G 17: 47,023,231 (GRCm39) D269G probably benign Het
Rcor1 T A 12: 111,078,327 (GRCm39) V474E Het
Rdh16 A G 10: 127,649,306 (GRCm39) D254G probably benign Het
Rp1 A T 1: 4,418,675 (GRCm39) D812E probably benign Het
Rp1 A G 1: 4,419,160 (GRCm39) S651P probably benign Het
Sec16b G A 1: 157,359,748 (GRCm39) probably benign Het
Sephs2 C T 7: 126,872,122 (GRCm39) G324S probably damaging Het
Sirpb1a T C 3: 15,481,992 (GRCm39) D112G probably damaging Het
Slc25a47 C G 12: 108,820,215 (GRCm39) T73S probably benign Het
Slco4c1 A T 1: 96,799,509 (GRCm39) L109H probably damaging Het
Smc2 A G 4: 52,470,848 (GRCm39) E845G possibly damaging Het
Sstr3 G T 15: 78,423,792 (GRCm39) N318K probably damaging Het
Suz12 A G 11: 79,904,087 (GRCm39) probably benign Het
Sycp2 A G 2: 178,035,931 (GRCm39) I252T probably damaging Het
Syne3 T C 12: 104,934,415 (GRCm39) Y118C probably damaging Het
Tbx18 C A 9: 87,611,521 (GRCm39) A170S probably damaging Het
Trak2 T C 1: 58,985,481 (GRCm39) N6D probably benign Het
Ttn G A 2: 76,720,868 (GRCm39) T6852I unknown Het
Tufm A G 7: 126,088,100 (GRCm39) E201G probably damaging Het
Vwa3b C A 1: 37,099,493 (GRCm39) P236Q probably benign Het
Xirp2 A G 2: 67,345,289 (GRCm39) Y2510C possibly damaging Het
Other mutations in Igsf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02223:Igsf1 APN X 48,873,897 (GRCm39) missense probably damaging 0.99
IGL03338:Igsf1 APN X 48,876,376 (GRCm39) missense probably benign 0.17
R1422:Igsf1 UTSW X 48,871,813 (GRCm39) nonsense probably null
R1573:Igsf1 UTSW X 48,880,863 (GRCm39) missense possibly damaging 0.68
R2191:Igsf1 UTSW X 48,872,027 (GRCm39) missense probably damaging 1.00
R4510:Igsf1 UTSW X 48,875,050 (GRCm39) missense probably damaging 1.00
R4511:Igsf1 UTSW X 48,875,050 (GRCm39) missense probably damaging 1.00
R9111:Igsf1 UTSW X 48,875,736 (GRCm39) missense probably null 0.99
R9265:Igsf1 UTSW X 48,884,191 (GRCm39) missense possibly damaging 0.92
Predicted Primers PCR Primer
(F):5'- GGCCAGTACCTTACAATCCC -3'
(R):5'- TGTAGAGAGGGATGCACTGATC -3'

Sequencing Primer
(F):5'- CCAGTGAAGTCATACCCGGATTG -3'
(R):5'- GAGGGATGCACTGATCACACCTC -3'
Posted On 2022-03-25